ClinVar Miner

List of variants reported as pathogenic for Immunodeficiency 87 and autoimmunity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_022047.4(DEF6):c.991G>A (p.Glu331Lys)	rs541285645	0.00027
NM_022047.4(DEF6):c.628T>G (p.Tyr210Asp)	rs2150387447
NM_022047.4(DEF6):c.940C>T (p.Gln314Ter)	rs2150388801

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